Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV370878 (NM_001497.3(B4GALT1):c.1065-12T>A) Homo sapiens

Symbol: CV370878
Name: NM_001497.3(B4GALT1):c.1065-12T>A
Condition: not specified [RCV000424673]
Clinical Significance: likely benign
Last Evaluated: 12/08/2016
Review Status: criteria provided, single submitter
Related Genes: B4GALT1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001497.3:c.1065-12T>A
NG_008919.1:g.58761T>A
NC_000009.12:g.33113598A>T
NC_000009.11:g.33113596A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,113,598 - 33,113,598CLINVAR
GRCh37933,113,596 - 33,113,596CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12837150
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.